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NM_000128.4(F11):c.1103G>C (p.Gly368Ala) AND Hereditary factor XI deficiency disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000666732.1

Allele description [Variation Report for NM_000128.4(F11):c.1103G>C (p.Gly368Ala)]

NM_000128.4(F11):c.1103G>C (p.Gly368Ala)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
HGVS:
  • NC_000004.12:g.186280548G>C
  • NG_008051.1:g.19585G>C
  • NM_000128.4:c.1103G>CMANE SELECT
  • NP_000119.1:p.Gly368Ala
  • NP_000119.1:p.Gly368Ala
  • LRG_583t1:c.1103G>C
  • LRG_583:g.19585G>C
  • LRG_583p1:p.Gly368Ala
  • NC_000004.11:g.187201702G>C
  • NM_000128.3:c.1103G>C
Protein change:
G368A
Links:
dbSNP: rs748926718
NCBI 1000 Genomes Browser:
rs748926718
Molecular consequence:
  • NM_000128.4:c.1103G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor XI deficiency disease
Synonyms:
Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012897; MeSH: D005173; MedGen: C0015523; Orphanet: 329; OMIM: 612416

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791079Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Apr 21, 2017) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.

Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ.

Hum Mutat. 2005 Sep;26(3):192-8.

PubMed [citation]
PMID:
16086308

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E.

J Thromb Haemost. 2004 Jan;2(1):71-6.

PubMed [citation]
PMID:
14717969
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000791079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024